Anti-Human/Mouse TMEM70 Monoclonal Antibody

TMEM70 belongs to the TMEM70 family. It is involved in biogenesis of mitochondrial ATP synthase. Defects in TMEM70 are a cause of mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency (MT-ATPSD). A publication identified TMEM70 gene defect as a pan-ethnic disorder and further redefined it as the most common cause of nuclear-origin ATP synthase deficiency.